Publicaciones en colaboración con investigadores/as de Hospital Ramón y Cajal (12)

2007

  1. Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase

    Neuromuscular Disorders, Vol. 17, Núm. 9-10, pp. 677-680

2001

  1. Early-onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA cytochrome C oxidase II gene

    Annals of Neurology, Vol. 50, Núm. 3, pp. 409-413

2000

  1. A mitochondrial tRNA(Lys) gene mutation (T8316C) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes

    Neuromuscular Disorders, Vol. 10, Núm. 7, pp. 493-496

1997

  1. Diffuse fatty liver in familial heterozygous hypobetalipoproteinemia

    Journal of Clinical Gastroenterology, Vol. 25, Núm. 1, pp. 379-382

1996

  1. Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNALeu(UUR) mutation of mitochondrial DNA

    Muscle and Nerve, Vol. 19, Núm. 2, pp. 187-190

1995

  1. DISTROFIA MUSCULAR CONGENITA TIPO OCCIDENTAL ASOCIADA E DEFECTO DE CITOCROMO C OXIDASA

    Anales Espanoles de Pediatria, Vol. 42, Núm. 2, pp. 137-140

  2. MIOPATIA LIPIDICA POR ACIDURIA GLUTARICA TIPO II SENSIBLE A RIBOFLAVINA

    Anales Espanoles de Pediatria, Vol. 42, Núm. 3, pp. 207-210

1994

  1. Letters to the editor

    Muscle & Nerve

  2. Variable clinical expression associated with the mutation 3243 np of mitochondrial DNA

    Journal of Inherited Metabolic Disease, Vol. 17, Núm. 5, pp. 634-635

1993

  1. Muscle carnitine deficiency and lipid storage myopathy in patients with mitochondrial myopathy

    Muscle & Nerve, Vol. 16, Núm. 7, pp. 778-781

  2. Plasma carnitine insufficiency and effectiveness of L‐carnitine therapy in patients with mitochondril myopathy

    Muscle & Nerve, Vol. 16, Núm. 2, pp. 150-153

1990

  1. ASPECTOS CLINICOS DE LAS ENFERMEDADES MITOCONDRIALES CON DEFECTO DE LA CADENA RESPIRATORIA EN LA INFANCIA. A PROPOSITO DE UNE CASUISTICA ESPANOLA

    Revista Espanola de Pediatria, Vol. 46, Núm. 275, pp. 368-378